Protein quality control systems in hypertrophic cardiomyopathy:pathogenesis and treatment potential
Fan-Yan LUO1
Yong-Ping BAI2
Hai-Song BU1
1.Department of Cardiovascular Surgery,Xiangya Hospital,Central South University,Changsha,China2.Department of Geriatric Medicine,Xiangya Hospital,Central South University,Changsha,China
摘要：Hypertrophic cardiomyopathy (HCM) isgenetic cardiomyopathy with the risk ofsudden death characterized by abnor-mal sarcomere protein.[1] Although some pathogenic genes related to HCM have been reported,[2] the dis-ease phenotype and pathogenesis cannot be fully elucidated, which brings great difficulties to the dia-gnosis and treatment of HCM, especially the explor-ation of HCM treatment strategies.[3] Studies have shown that sarcomere protein mutation may affect the normal development of sarcomere structure and lead to abnormal cardiac function, indicating that HCM is insufficient in research in many cases.[4,5] The pathogenesis of HCM disease mainly includes hap-loinsufficiency ("loss of function") or shortened non-functional proteins ("toxic peptides").[6] MYH7 and other sarcomere proteins mainly cause haploinsuffi-ciency ("loss of function") by missense mutations, while 90％ of MYBPC mutations cause shortened non-functional proteins ("toxic peptides").
机标关键词：qualityproteinsystemscontrolcardiomyopathyhypertrophicpathogenesispotential
论文发表日期：2022-10-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：5( 780-784 )